1. The DNA sequence of human chromosome 7
- Author
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Robert Baertsch, Karen A. Phelps, Lisa Cook, Joelle Kalicki, Michelle O'Laughlin, Kerry L. Bubb, David Torrents, Kristine M. Wylie, Andrew Vanbrunt, Mark E. Schaller, Dan Layman, Kelsi Scott, LaDeana W. Hillier, Marco A. Marra, Caryn Wagner-McPherson, Cindy Strong, Phil Latreille, Hui Sun, Maynard V. Olson, Holland Bradshaw-Cordum, Amanda Abbott, Robert S. Fulton, Nicolas Berkowicz, Richard Harkins, Asif T. Chinwalla, Rajinder Kaul, William E. Nash, Chad Tomlinson, Susan M. Rock, Patricia Wohldmann, Paul Flicek, Elaine R. Mardis, Catrina Strowmatt, James M. Eldred, Betty Lamar, Christopher K. Raymond, Michael C. Wendl, Lauren Bielicki, Shawn Leonard, John Douglas Mcpherson, Christine Nguyen, Jennifer Murray, Michael C. Becker, Lucinda Fulton, Amber Isak, Will Gillett, Matt Cordes, James B. Clendenning, Kymberlie H. Pepin, Mandeep Sekhon, Eric Haugen, Feiyu Du, Theresa Rohlfing, Kimberly D. Delehaunty, Nancy Miller, Amy Kozlowicz-Reilly, Eric D. Green, W. James Kent, Tamberlyn Bieri, Peer Bork, Richard K. Wilson, Patrick Minx, John Spieth, Evan E. Eichler, Shawn Iadanoto, Terrence S. Furey, Matthew E. Portnoy, Shunfang Hou, R. James, Warren Gish, Brian Schultz, Doug Johnson, Philip Ozersky, Jennifer Edwards, Stephanie L. Chissoe, Jeffrey A. Bailey, Tracie L. Miner, Jason Maas, Andrea Holmes, Sandra W. Clifton, Sara Jaeger, Tina Graves, Ruth Levy, Joseph A. Bedell, Ginger A. Fewell, Mikita Suyama, Shiaw-Pyng Yang, Sean R. Eddy, Rebecca S. Walker, Aye-Mon Tin-Wollam, Hui Du, Evan Keibler, Matthew T. Hickenbotham, Sara Dauphin-Kohlberg, Robert H. Waterston, Yang Zhou, Stephanie Andrews, Johar Ali, John W. Wallis, Michael R. Brent, Rachel Maupin, Donald Williams, Elizabeth Simms, Laura Courtney, Anthony R. Harris, Jeffrey Woessner, and Joanne O. Nelson
- Subjects
Williams Syndrome ,Chromosome 7 (human) ,Genetics ,RNA, Untranslated ,Multidisciplinary ,Base Sequence ,Sequence analysis ,Pseudogene ,Molecular Sequence Data ,Proteins ,Sequence Analysis, DNA ,Genome project ,Biology ,Physical Chromosome Mapping ,Conserved sequence ,Sequence-tagged site ,Mice ,Sequence logo ,Species Specificity ,Gene Duplication ,Consensus sequence ,Animals ,Humans ,Chromosomes, Human, Pair 7 ,Pseudogenes - Abstract
Human chromosome 7 has historically received prominent attention in the human genetics community, primarily related to the search for the cystic fibrosis gene and the frequent cytogenetic changes associated with various forms of cancer. Here we present more than 153 million base pairs representing 99.4% of the euchromatic sequence of chromosome 7, the first metacentric chromosome completed so far. The sequence has excellent concordance with previously established physical and genetic maps, and it exhibits an unusual amount of segmentally duplicated sequence (8.2%), with marked differences between the two arms. Our initial analyses have identified 1,150 protein-coding genes, 605 of which have been confirmed by complementary DNA sequences, and an additional 941 pseudogenes. Of genes confirmed by transcript sequences, some are polymorphic for mutations that disrupt the reading frame.
- Published
- 2003
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